Incidental Mutation 'IGL01879:Colq'
| ID |
179001 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Colq
|
| Ensembl Gene |
ENSMUSG00000057606 |
| Gene Name |
collagen like tail subunit of asymmetric acetylcholinesterase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL01879
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
31245039-31299820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31265952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 187
(G187E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112027]
[ENSMUST00000150054]
|
| AlphaFold |
O35348 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112027
AA Change: G197E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107658
Gene: ENSMUSG00000057606
AA Change: G197E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
67 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
91 |
155 |
8.8e-11 |
PFAM |
|
low complexity region
|
179 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
215 |
293 |
3.7e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150054
AA Change: G187E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121065
Gene: ENSMUSG00000057606
AA Change: G187E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
81 |
143 |
1.5e-11 |
PFAM |
|
low complexity region
|
169 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
196 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
202 |
283 |
6.4e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit tremors, reduced body weight, lack of asymmetric forms of acetylcholinesterase and butyrylcholinesterase, and lethality prior to maturation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cgn |
G |
A |
3: 94,681,674 (GRCm39) |
R474* |
probably null |
Het |
| Chmp4b |
T |
C |
2: 154,534,601 (GRCm39) |
|
probably benign |
Het |
| Chst15 |
A |
G |
7: 131,871,994 (GRCm39) |
Y96H |
possibly damaging |
Het |
| Clstn3 |
A |
G |
6: 124,415,769 (GRCm39) |
S638P |
probably damaging |
Het |
| Cyp2b23 |
A |
G |
7: 26,372,279 (GRCm39) |
Y389H |
probably benign |
Het |
| Cyp3a13 |
T |
C |
5: 137,917,265 (GRCm39) |
Q54R |
probably benign |
Het |
| Dscc1 |
T |
C |
15: 54,950,212 (GRCm39) |
I178V |
probably benign |
Het |
| Fbxo4 |
G |
A |
15: 4,005,436 (GRCm39) |
T148M |
probably damaging |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpr162 |
A |
G |
6: 124,838,204 (GRCm39) |
S149P |
probably damaging |
Het |
| Grid1 |
T |
A |
14: 35,172,327 (GRCm39) |
I611N |
possibly damaging |
Het |
| Mgat5 |
T |
C |
1: 127,325,287 (GRCm39) |
F385L |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,149,166 (GRCm39) |
T17A |
possibly damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,366 (GRCm39) |
I93M |
probably benign |
Het |
| Or4n4b |
A |
G |
14: 50,535,969 (GRCm39) |
S266P |
probably benign |
Het |
| Or5p60 |
A |
T |
7: 107,724,371 (GRCm39) |
I33N |
possibly damaging |
Het |
| Or7g29 |
A |
T |
9: 19,286,703 (GRCm39) |
L158* |
probably null |
Het |
| Parg |
T |
C |
14: 31,993,579 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,508,139 (GRCm39) |
D687G |
probably benign |
Het |
| Sh3bp1 |
T |
G |
15: 78,792,192 (GRCm39) |
S450A |
probably damaging |
Het |
| Skap2 |
T |
C |
6: 51,973,014 (GRCm39) |
D90G |
possibly damaging |
Het |
| Smc5 |
C |
T |
19: 23,205,548 (GRCm39) |
R796H |
probably damaging |
Het |
| Tdrd12 |
A |
C |
7: 35,221,348 (GRCm39) |
I146S |
probably damaging |
Het |
| Tinf2 |
T |
C |
14: 55,918,363 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
A |
15: 27,741,119 (GRCm39) |
T2702I |
probably benign |
Het |
| Vmn1r88 |
T |
A |
7: 12,912,229 (GRCm39) |
M195K |
probably benign |
Het |
| Vmn2r110 |
T |
C |
17: 20,794,122 (GRCm39) |
H849R |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r4 |
C |
T |
3: 64,298,431 (GRCm39) |
G566R |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,661,630 (GRCm39) |
T301A |
probably damaging |
Het |
|
| Other mutations in Colq |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Colq
|
APN |
14 |
31,257,545 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00832:Colq
|
APN |
14 |
31,250,303 (GRCm39) |
nonsense |
probably null |
|
|
IGL01115:Colq
|
APN |
14 |
31,267,085 (GRCm39) |
splice site |
probably benign |
|
|
IGL02009:Colq
|
APN |
14 |
31,257,599 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02935:Colq
|
APN |
14 |
31,257,591 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03168:Colq
|
APN |
14 |
31,246,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0288:Colq
|
UTSW |
14 |
31,265,949 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0765:Colq
|
UTSW |
14 |
31,247,994 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1756:Colq
|
UTSW |
14 |
31,269,409 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3749:Colq
|
UTSW |
14 |
31,271,410 (GRCm39) |
unclassified |
probably benign |
|
|
R4114:Colq
|
UTSW |
14 |
31,279,824 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R4415:Colq
|
UTSW |
14 |
31,257,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Colq
|
UTSW |
14 |
31,267,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4628:Colq
|
UTSW |
14 |
31,265,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Colq
|
UTSW |
14 |
31,251,472 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4971:Colq
|
UTSW |
14 |
31,267,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Colq
|
UTSW |
14 |
31,250,789 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5096:Colq
|
UTSW |
14 |
31,274,911 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5181:Colq
|
UTSW |
14 |
31,279,799 (GRCm39) |
missense |
probably benign |
|
|
R5251:Colq
|
UTSW |
14 |
31,261,776 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7059:Colq
|
UTSW |
14 |
31,247,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7075:Colq
|
UTSW |
14 |
31,274,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7355:Colq
|
UTSW |
14 |
31,267,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Colq
|
UTSW |
14 |
31,267,043 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7651:Colq
|
UTSW |
14 |
31,250,292 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7988:Colq
|
UTSW |
14 |
31,275,794 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9037:Colq
|
UTSW |
14 |
31,279,744 (GRCm39) |
intron |
probably benign |
|
|
R9797:Colq
|
UTSW |
14 |
31,250,777 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation